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1.
J Inherit Metab Dis ; 29(6): 701-4; discussion 705-6, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17041745

RESUMO

The blood-brain barrier (BBB) metabolically isolates the central nervous system (CNS) from the circulation and protects it against fluctuations of hydrophilic nutrients in plasma and from intoxication. Recent studies have shown that dicarboxylic acids (DCAs) are transported across the blood-brain barrier at very low rates. In organic acidaemias, neurological complications are common. We hypothesize that, as a result of the very limited efflux, in certain organic acidaemias there is pathological accumulation of DCAs (e.g. glutarate, 3-hydroxyglutarate, D-2- and L-2-hydroxyglutarate, methylmalonate) in the brain secondary to the metabolic block. At high concentrations some of these compounds may become neurotoxic. Treatment should be aimed at preventing the accumulation of these compounds using our understanding of the properties of the BBB.


Assuntos
Barreira Hematoencefálica , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Doenças do Sistema Nervoso/complicações , Transportadores de Ânions Orgânicos/metabolismo , Animais , Transporte Biológico , Encéfalo/patologia , Sistema Nervoso Central/patologia , Humanos
2.
Arch Dis Child ; 89(7): 604-10, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15210487

RESUMO

BACKGROUND: The classical extrapyramidal movement disorder following beta haemolytic streptococcus (BHS) infection is Sydenham's chorea (SC). Recently, other post-streptococcal movement disorders have been described, including motor tics and dystonia. Associated emotional and behavioural alteration is characteristic. AIMS: To describe experience of post-streptococcal dyskinesias and associated co-morbid psychiatric features presenting to a tertiary referral centre 1999-2002. METHODS: In all patients, dyskinetic movement disorders followed BHS pharyngeal infection. BHS infection was defined by pharyngeal culture of the organism, or paired streptococcal serology. Movement disorders were classified according to international criteria, and validated by experienced child neurologists. Psychiatric complications were defined using ICD-10 criteria using a validated psychiatric interview. RESULTS: In the 40 patients, the following dyskinetic movement disorders were present: chorea (n = 20), motor tics (n = 16), dystonia (n = 5), tremor (n = 3), stereotypies (n = 2), opsoclonus (n = 2), and myoclonus (n = 1). Sixty five per cent of the chorea patients were female, whereas 69% of the tic patients were male. ICD-10 psychiatric diagnoses were made in 62.5%. Using the same psychiatric instrument, only 8.9% of UK children would be expected to have an ICD-10 psychiatric diagnosis. Emotional disorders occurred in 47.5%, including obsessive-compulsive disorder (27.5%), generalised anxiety (25%), and depressive episode (17.5%). Additional psychiatric morbidity included conduct disorders (27.5%) and hyperkinetic disorders (15%). Psychiatric, movement, and post-streptococcal autoimmune disorders were commonly observed in family members. At a mean follow up of 2.7 years, 72.5% had continuing movement and psychiatric disorders. CONCLUSION: Post-streptococcal dyskinesias occur with significant and disabling psychiatric co-morbidity and are potential autoimmune models of common "idiopathic" movement and psychiatric disorders in children. Multiple factors may be involved in disease expression including genetic predisposition, developmental status, and the patient's sex.


Assuntos
Discinesias/microbiologia , Transtornos Mentais/microbiologia , Infecções Estreptocócicas/complicações , Adolescente , Criança , Transtornos do Comportamento Infantil/microbiologia , Pré-Escolar , Discinesias/psicologia , Saúde da Família , Feminino , Humanos , Hipercinese/microbiologia , Lactente , Masculino , Transtornos do Humor/microbiologia , Prognóstico , Escalas de Graduação Psiquiátrica , Infecções Estreptocócicas/psicologia
3.
Neurology ; 62(10): 1872-4, 2004 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-15159499

RESUMO

Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.


Assuntos
Dopamina/líquido cefalorraquidiano , Distúrbios Distônicos/líquido cefalorraquidiano , Ácido Homovanílico/líquido cefalorraquidiano , Transtornos da Motilidade Ocular/líquido cefalorraquidiano , Doença de Parkinson/líquido cefalorraquidiano , Dopamina/urina , Distúrbios Distônicos/diagnóstico por imagem , Feminino , Ácido Homovanílico/urina , Humanos , Ácido Hidroxi-Indolacético/líquido cefalorraquidiano , Recém-Nascido , Masculino , Transtornos da Motilidade Ocular/diagnóstico por imagem , Doença de Parkinson/diagnóstico por imagem , Reflexo Anormal , Movimentos Sacádicos , Síndrome , Tomografia Computadorizada de Emissão de Fóton Único
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